Incidental Mutation 'R6547:Calcr'
| ID |
521269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Calcr
|
| Ensembl Gene |
ENSMUSG00000023964 |
| Gene Name |
calcitonin receptor |
| Synonyms |
Clr |
| MMRRC Submission |
044672-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6547 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
3685680-3764714 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3717177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 94
(D94E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130083
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075644]
[ENSMUST00000115622]
[ENSMUST00000168592]
[ENSMUST00000170266]
[ENSMUST00000171613]
|
| AlphaFold |
Q60755 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075644
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000075070
Gene: ENSMUSG00000023964
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
HormR
|
85 |
160 |
4.33e-32 |
SMART |
|
Pfam:7tm_2
|
162 |
441 |
5.2e-85 |
PFAM |
|
Pfam:Dicty_CAR
|
259 |
410 |
5e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000093599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000102402
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115622
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000111285
Gene: ENSMUSG00000023964
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
HormR
|
85 |
160 |
4.33e-32 |
SMART |
|
Pfam:7tm_2
|
162 |
404 |
1.1e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168592
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130243
Gene: ENSMUSG00000023964
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
HormR
|
85 |
160 |
4.33e-32 |
SMART |
|
Pfam:7tm_2
|
162 |
404 |
1.1e-85 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170266
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132124
Gene: ENSMUSG00000023964
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
HormR
|
85 |
160 |
4.33e-32 |
SMART |
|
Pfam:7tm_2
|
162 |
441 |
2.2e-84 |
PFAM |
|
Pfam:Dicty_CAR
|
257 |
399 |
2.5e-7 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171613
AA Change: D94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130083
Gene: ENSMUSG00000023964
AA Change: D94E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
41 |
N/A |
INTRINSIC |
|
HormR
|
85 |
160 |
4.33e-32 |
SMART |
|
Pfam:7tm_2
|
162 |
404 |
1.1e-85 |
PFAM |
|
| Meta Mutation Damage Score |
0.5740 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high affinity receptor for the peptide hormone calcitonin and belongs to a subfamily of seven transmembrane-spanning G protein-coupled receptors. The encoded protein is involved in maintaining calcium homeostasis and in regulating osteoclast-mediated bone resorption. Polymorphisms in this gene have been associated with variations in bone mineral density and onset of osteoporosis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Haploinsufficiency may result in increased bone density due to increased bone formation. Homozygous inactivation may result in embryonic lethality. Mice homozygous for another disruption allele at this locus show a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,490,251 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,224,757 (GRCm39) |
V490E |
probably benign |
Het |
| Abca2 |
G |
T |
2: 25,323,350 (GRCm39) |
G106V |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,957,000 (GRCm39) |
T276A |
probably benign |
Het |
| Anxa7 |
A |
G |
14: 20,519,461 (GRCm39) |
V119A |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,257 (GRCm39) |
|
probably null |
Het |
| Atm |
T |
C |
9: 53,351,457 (GRCm39) |
Y2964C |
probably damaging |
Het |
| Bbs9 |
T |
C |
9: 22,425,365 (GRCm39) |
Y140H |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,706,327 (GRCm39) |
Y937N |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,195 (GRCm39) |
T1197S |
probably benign |
Het |
| Clca3a1 |
C |
T |
3: 144,442,708 (GRCm39) |
A779T |
probably damaging |
Het |
| Clec9a |
T |
A |
6: 129,393,339 (GRCm39) |
V94D |
probably benign |
Het |
| Colec12 |
G |
T |
18: 9,840,351 (GRCm39) |
L57F |
probably damaging |
Het |
| Fa2h |
T |
C |
8: 112,074,652 (GRCm39) |
Y317C |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,448,607 (GRCm39) |
T1282A |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Hcn2 |
G |
T |
10: 79,552,986 (GRCm39) |
V162L |
probably benign |
Het |
| Hycc1 |
T |
C |
5: 24,170,098 (GRCm39) |
N417S |
probably benign |
Het |
| Kbtbd11 |
T |
A |
8: 15,077,641 (GRCm39) |
V80E |
possibly damaging |
Het |
| Lama4 |
A |
G |
10: 38,949,652 (GRCm39) |
D915G |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,186,117 (GRCm39) |
E806V |
probably damaging |
Het |
| Mppe1 |
T |
C |
18: 67,362,059 (GRCm39) |
I169V |
probably benign |
Het |
| Msc |
A |
C |
1: 14,825,969 (GRCm39) |
S2A |
possibly damaging |
Het |
| Nploc4 |
A |
G |
11: 120,319,348 (GRCm39) |
|
probably null |
Het |
| Nr3c2 |
A |
T |
8: 77,635,438 (GRCm39) |
I180F |
possibly damaging |
Het |
| Nrap |
G |
T |
19: 56,339,998 (GRCm39) |
H840N |
probably benign |
Het |
| Or8a1 |
T |
A |
9: 37,641,791 (GRCm39) |
M163L |
probably benign |
Het |
| Pate13 |
T |
A |
9: 35,819,781 (GRCm39) |
M15K |
probably null |
Het |
| Pdlim1 |
G |
A |
19: 40,211,564 (GRCm39) |
T243I |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,831,188 (GRCm39) |
M318L |
probably benign |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,099 (GRCm39) |
R426L |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,572,226 (GRCm39) |
N674D |
probably damaging |
Het |
| Rp1 |
G |
A |
1: 4,240,528 (GRCm39) |
T875I |
unknown |
Het |
| Rtn1 |
G |
T |
12: 72,355,535 (GRCm39) |
S137Y |
possibly damaging |
Het |
| Scn2a |
A |
G |
2: 65,546,241 (GRCm39) |
I935V |
probably benign |
Het |
| Serpina1a |
C |
T |
12: 103,822,180 (GRCm39) |
V251M |
probably damaging |
Het |
| Slc19a3 |
A |
G |
1: 83,000,621 (GRCm39) |
V132A |
probably damaging |
Het |
| Slc26a6 |
T |
A |
9: 108,737,981 (GRCm39) |
|
probably null |
Het |
| Slc2a5 |
T |
A |
4: 150,220,076 (GRCm39) |
V164D |
possibly damaging |
Het |
| Slc4a1 |
T |
A |
11: 102,247,561 (GRCm39) |
T441S |
probably damaging |
Het |
| Stk33 |
T |
C |
7: 108,920,042 (GRCm39) |
I366V |
possibly damaging |
Het |
| Syt14 |
G |
T |
1: 192,584,177 (GRCm39) |
H696N |
possibly damaging |
Het |
| Tcaim |
T |
A |
9: 122,643,531 (GRCm39) |
V77D |
probably benign |
Het |
| Tefm |
T |
G |
11: 80,031,210 (GRCm39) |
|
probably null |
Het |
| Tekt3 |
T |
A |
11: 62,961,304 (GRCm39) |
S158T |
possibly damaging |
Het |
| Tspan11 |
T |
A |
6: 127,926,766 (GRCm39) |
M238K |
possibly damaging |
Het |
| Unc5c |
A |
T |
3: 141,495,780 (GRCm39) |
T476S |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,444,612 (GRCm39) |
L109Q |
probably damaging |
Homo |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vps13c |
C |
A |
9: 67,880,647 (GRCm39) |
Q3495K |
probably damaging |
Het |
| Zbtb10 |
G |
A |
3: 9,316,763 (GRCm39) |
A192T |
probably benign |
Het |
| Zfp316 |
A |
T |
5: 143,239,952 (GRCm39) |
V689D |
probably damaging |
Het |
| Zswim1 |
A |
G |
2: 164,666,716 (GRCm39) |
|
probably benign |
Het |
| Zswim5 |
T |
C |
4: 116,844,100 (GRCm39) |
L1046P |
probably damaging |
Het |
|
| Other mutations in Calcr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00743:Calcr
|
APN |
6 |
3,717,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01146:Calcr
|
APN |
6 |
3,700,144 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02253:Calcr
|
APN |
6 |
3,707,523 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02567:Calcr
|
APN |
6 |
3,691,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02729:Calcr
|
APN |
6 |
3,707,595 (GRCm39) |
missense |
probably benign |
|
|
IGL03062:Calcr
|
APN |
6 |
3,693,718 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0111:Calcr
|
UTSW |
6 |
3,717,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0561:Calcr
|
UTSW |
6 |
3,692,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1013:Calcr
|
UTSW |
6 |
3,692,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Calcr
|
UTSW |
6 |
3,700,251 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2152:Calcr
|
UTSW |
6 |
3,687,615 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2206:Calcr
|
UTSW |
6 |
3,717,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2207:Calcr
|
UTSW |
6 |
3,717,133 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3403:Calcr
|
UTSW |
6 |
3,687,604 (GRCm39) |
missense |
probably benign |
0.04 |
|
R3781:Calcr
|
UTSW |
6 |
3,700,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3782:Calcr
|
UTSW |
6 |
3,700,193 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3851:Calcr
|
UTSW |
6 |
3,693,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Calcr
|
UTSW |
6 |
3,693,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4190:Calcr
|
UTSW |
6 |
3,717,106 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4387:Calcr
|
UTSW |
6 |
3,707,581 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4402:Calcr
|
UTSW |
6 |
3,708,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4403:Calcr
|
UTSW |
6 |
3,708,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4494:Calcr
|
UTSW |
6 |
3,708,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4495:Calcr
|
UTSW |
6 |
3,708,484 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4745:Calcr
|
UTSW |
6 |
3,692,576 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4857:Calcr
|
UTSW |
6 |
3,708,511 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4883:Calcr
|
UTSW |
6 |
3,714,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5168:Calcr
|
UTSW |
6 |
3,708,610 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5375:Calcr
|
UTSW |
6 |
3,714,651 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5643:Calcr
|
UTSW |
6 |
3,708,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5644:Calcr
|
UTSW |
6 |
3,708,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Calcr
|
UTSW |
6 |
3,714,730 (GRCm39) |
splice site |
probably null |
|
|
R5799:Calcr
|
UTSW |
6 |
3,707,592 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5920:Calcr
|
UTSW |
6 |
3,722,994 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6249:Calcr
|
UTSW |
6 |
3,692,711 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6329:Calcr
|
UTSW |
6 |
3,687,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6357:Calcr
|
UTSW |
6 |
3,714,710 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6365:Calcr
|
UTSW |
6 |
3,711,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6393:Calcr
|
UTSW |
6 |
3,708,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Calcr
|
UTSW |
6 |
3,692,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7208:Calcr
|
UTSW |
6 |
3,687,612 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7342:Calcr
|
UTSW |
6 |
3,691,536 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7430:Calcr
|
UTSW |
6 |
3,708,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7601:Calcr
|
UTSW |
6 |
3,687,603 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7853:Calcr
|
UTSW |
6 |
3,707,499 (GRCm39) |
missense |
probably benign |
|
|
R8084:Calcr
|
UTSW |
6 |
3,687,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8181:Calcr
|
UTSW |
6 |
3,693,899 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8559:Calcr
|
UTSW |
6 |
3,692,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Calcr
|
UTSW |
6 |
3,707,489 (GRCm39) |
intron |
probably benign |
|
|
R9183:Calcr
|
UTSW |
6 |
3,711,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9356:Calcr
|
UTSW |
6 |
3,687,408 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9716:Calcr
|
UTSW |
6 |
3,687,468 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATAGCTGAAGTGGATTTGGG -3'
(R):5'- CCAATGAGATTTTCCCCACTGC -3'
Sequencing Primer
(F):5'- GGGTCTGCTTGTTCACTTGACAC -3'
(R):5'- AATGAGATTTTCCCCACTGCTATAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation